How Patient Advocacy Is Guiding Rare Disease Drug Development

PC: What role has public participation historically played in shaping healthcare policy, and why is it important for pharma and biotech companies?

Leuchter: Public participation has played a critical role, for many of the reasons I mentioned earlier. But I’d like to expand on one area I haven’t touched on yet: education. In many cases—especially with rare or genetically defined diseases—we’re dealing with relatively new conditions. For example, at GRIN Therapeutics, GRIN-related neurodevelopmental disorder was only first identified and named in 2014.

The perspective we’ve gained from patient advocates has been essential. They’ve helped us understand the natural history of their children’s conditions, which directly informs how we think about trial design and the regulatory path forward. Their involvement has been instrumental, and I believe everyone—industry, regulators, even globally—has benefited from hearing directly from patients and caregivers when evaluating the best path for a potential therapy.

Public participation not only has played a significant role but should continue to do so—at every level: drug development, regulatory decision-making, and even payer considerations. We haven’t yet talked about how payers evaluate caregiver burden, the day-to-day experience of the patient, and the impact of experimental or approved therapies on symptoms and disease progression. These perspectives influence every part of the ecosystem. That’s why having meaningful mechanisms for patients and caregivers to share their views and collaborate is so important—for all stakeholders involved.

Full Interview Summary: The proposed policy change by the Department of Health and Human Services (HHS) that could reduce formal mechanisms for patient advocate input in regulatory discussions poses significant risks to drug development, especially for rare and serious diseases. Patient advocates are crucial in helping developers understand the lived experiences of patients and caregivers, especially in conditions with limited natural history data. Their insights inform decisions around clinical trial design, site and endpoint selection, and regulatory strategies. Organizations such as GRIN Therapeutics have prioritized patient advocacy from the outset, integrating advocates into their teams to ensure ongoing dialogue and collaboration throughout development.

Historically, public participation has been instrumental in shaping healthcare policy. For newly recognized or genetically defined diseases, patient advocates often provide the only frame of reference for symptom progression and caregiver burden. This input is invaluable not only to developers and regulators but also to payers making reimbursement decisions. High-cost, innovative therapies must demonstrate broad impact across disease symptoms to justify value, and advocates help articulate which symptoms matter most to patients. Their contributions help define clinical endpoints that better capture treatment effectiveness, supporting both regulatory approval and reimbursement.

If formal patient input mechanisms at the federal level were removed, drug developers would lose a vital perspective at a critical decision-making stage. While engagement can continue informally—through interviews, surveys, and other methods—losing the regulatory touchpoint would weaken the system. Nonetheless, developers can and should continue gathering robust patient and caregiver insights and proactively share them with regulators. In doing so, they help bridge any gaps left by policy changes and sustain meaningful engagement that ultimately benefits all stakeholders—patients, developers, payers, and regulators alike. This collaborative approach remains essential to ensuring the development of effective, impactful therapies for rare and serious conditions.